Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family

  • Fatemeh Hadipour Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.
  • Yousef Shafeghati Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. AND Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Eiman Bagherizadeh Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.
  • Farkhondeh Behjati Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. AND Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Zahra Hadipour Mail Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.
Keywords:
49 XXXXY, Fraccaro syndrome, Facial dysmorphism, Skeletal anomalies

Abstract

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.

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How to Cite
1.
Hadipour F, Shafeghati Y, Bagherizadeh E, Behjati F, Hadipour Z. Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family. Acta Med Iran. 51(12):907-909.
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